Incidental Mutation 'IGL02448:Pex11a'
ID293621
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pex11a
Ensembl Gene ENSMUSG00000030545
Gene Nameperoxisomal biogenesis factor 11 alpha
SynonymsPEX11alpha
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.263) question?
Stock #IGL02448
Quality Score
Status
Chromosome7
Chromosomal Location79735957-79743131 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 79737460 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032761] [ENSMUST00000032762] [ENSMUST00000205413] [ENSMUST00000205747] [ENSMUST00000205915]
Predicted Effect probably damaging
Transcript: ENSMUST00000032761
AA Change: L208Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032761
Gene: ENSMUSG00000030545
AA Change: L208Q

DomainStartEndE-ValueType
Pfam:PEX11 1 237 4.5e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000032762
SMART Domains Protein: ENSMUSP00000032762
Gene: ENSMUSG00000030546

DomainStartEndE-ValueType
Pfam:Perilipin 14 399 7.5e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150606
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205297
Predicted Effect probably null
Transcript: ENSMUST00000205413
Predicted Effect probably null
Transcript: ENSMUST00000205747
Predicted Effect probably null
Transcript: ENSMUST00000205915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206822
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit minor abnormalities of the mitochondria and peroxisomes. Mice homozygous for a different knock-out allele exhibit increased body weight, hepatic steatosis and fewer, smaller peroxisomes in hepatocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,875,570 I286F probably damaging Het
Arhgap5 A G 12: 52,562,340 E1366G probably damaging Het
Blzf1 T A 1: 164,295,781 I326F possibly damaging Het
Cc2d2a A C 5: 43,683,205 probably benign Het
Cdc37 T C 9: 21,139,851 E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 S279P probably benign Het
Cdh18 T C 15: 23,173,789 S30P probably benign Het
Cep192 A G 18: 67,869,447 T2238A probably benign Het
Cpped1 C T 16: 11,805,389 E289K probably benign Het
Ctsq A T 13: 61,036,230 Y293N probably damaging Het
Epb41l2 A G 10: 25,493,595 N20S possibly damaging Het
Gcc2 T A 10: 58,292,571 C1304* probably null Het
Hsd3b5 C T 3: 98,622,131 G61E probably damaging Het
Igfals A T 17: 24,880,187 N84I probably damaging Het
Irs2 A T 8: 11,007,862 V190D probably benign Het
Kank1 T A 19: 25,411,375 L804Q probably damaging Het
Kcnj2 G T 11: 111,072,282 V167L probably benign Het
Kif20a T C 18: 34,628,454 V300A possibly damaging Het
Kmt2d T C 15: 98,844,110 probably benign Het
Moxd1 T C 10: 24,282,719 F424L probably damaging Het
Mpeg1 A C 19: 12,462,609 D477A probably benign Het
Mtmr10 A T 7: 64,308,150 Y166F probably damaging Het
Muc5b T G 7: 141,868,489 I4454S possibly damaging Het
Ntng1 G A 3: 109,934,559 probably benign Het
Olfr582 T C 7: 103,042,397 I306T possibly damaging Het
Olfr869 T A 9: 20,137,641 L175* probably null Het
Plcg2 A G 8: 117,607,221 D911G probably benign Het
Rc3h2 T C 2: 37,389,805 T471A probably benign Het
Rif1 T A 2: 52,116,696 L2214Q probably damaging Het
Rtel1 T A 2: 181,336,037 S120T probably benign Het
Ryr1 A G 7: 29,105,066 probably benign Het
Sh3yl1 G T 12: 30,939,667 A129S probably damaging Het
Slc25a10 A G 11: 120,497,053 T191A probably benign Het
Slc8b1 T C 5: 120,525,791 S359P probably damaging Het
Srf T C 17: 46,555,423 T136A possibly damaging Het
Stx1a G T 5: 135,023,619 probably benign Het
Taf1d T A 9: 15,310,394 C224* probably null Het
Tnik A G 3: 28,621,077 S700G probably null Het
Ttn T C 2: 76,736,114 E28145G probably damaging Het
Ttn T C 2: 76,942,987 H2357R probably benign Het
Ush1c C A 7: 46,209,137 V576F possibly damaging Het
Xpc T C 6: 91,515,744 E19G probably benign Het
Zdhhc25 G A 15: 88,600,842 V127M probably damaging Het
Other mutations in Pex11a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03085:Pex11a APN 7 79737775 missense probably damaging 1.00
R3739:Pex11a UTSW 7 79740170 missense possibly damaging 0.79
R6164:Pex11a UTSW 7 79737379 missense probably damaging 1.00
R6718:Pex11a UTSW 7 79737482 missense probably benign 0.00
R7418:Pex11a UTSW 7 79742987 unclassified probably benign
Posted On2015-04-16